What is dilated cardiomyopathy, a leading cause of heart failure and transplant?

What is dilated cardiomyopathy, a leading cause of heart failure and transplant?

31/05/2023 at 17:01


It is the leading cause of transplants worldwide, and patients with this disease are also at higher risk of sudden death.

The dilated cardiomyopathy It is the most common cause of heart failure in young people and the leading cause of transplants worldwide. In addition, there is an increased risk of sudden death in patients with this disease.

  • It is a pathology of the heart muscle that causes an increase in the size of the chambers of the heart, which hinders the organ’s ability to pump.

The origin of this pathology is usually genetic. In fact, up to 40-50% of patients are estimated. And this disease is caused by genetic changes that can occur in more than 40 different genes.

In addition to this genetic condition, according to the Spanish Heart Foundation, some conditions associated with a higher risk of developing dilated cardiomyopathy have been identified, which would be:

  • viral infections
  • Autoimmune disease
  • Pregnancy
  • Exposure to toxins (poisons)
  • Exposure to certain medications.

Symptoms of dilated cardiomyopathy

Not all patients with dilated cardiomyopathy have symptoms. In fact, many say they are perfectly fine.

In addition, the symptoms of this pathology are very similar to those produced by any type of heart failure. And it:

  • Feeling of lack of air.
  • Extreme tiredness or lack of energy.
  • Swelling of the feet, ankles or stomach.
  • Coughing or breathing sounds.
  • Difficulty breathing.
  • loss of appetite


Patients with this type of heart disease have medications available to help control symptoms and slow the progression of the disease. But there is no drug or medical procedure yet to cure dilated cardiomyopathy.

  • In some cases, cardiologists choose to implant pacemakers or automatic defibrillators.
  • And in the most serious cases, the only alternative is a transplant.

If it has a genetic origin, worse prognosis

The largest study to date of patients with genetically studied non-ischemic dilated cardiomyopathy has shown for the first time that patients with this genetic disease have worse outcomes than others.

The work was published in the Journal of the American College of Cardiology, which he coordinates Pablo Garcia-Paviathe leader of the group CIBER of cardiovascular diseases (CIBERCV) and Director of the Department of Familial Cardiopathies at Puerta de Hierro Hospital in Majadahonda.

The researchers came to this conclusion after collecting clinical data from 1,005 genotyped patients in 20 Spanish hospitals between 2015 and 2020, of which 372 (37% of them) had a genetic cause and 633 (63%) did not.

The authors analyzed the clinical evolution of the patients with special attention to the development of end-stage heart failure, malignant ventricular arrhythmias and the regenerative capacity of the heart as measured by left ventricular reverse remodeling.

individualized medicine

As explained Pablo Garcia-Pavia

  • “We found that people with non-ischemic dilated cardiomyopathy with pathogenic or likely pathogenic variants had a worse prognosis than genotype-negative individuals. And the clinical course and left ventricular remodeling differed depending on the underlying gene affected.”

After an average follow-up of more than 4 years:

  • The main endpoint (combination of adverse cardiovascular events) occurred in 118 (31.7%) patients with a positive genotype and in 125 (19.8%) of the negative group.
  • End-stage heart failure occurred in 60 (16.1%) genotype-positive patients and in 55 (8.7%) genotype-negative patients.
  • Finally, 73 positive patients (19.6%) and 77 negative patients (12.2%) suffered from malignant ventricular arrhythmia.

For the CIBERCV researcher, “the results of our work have a significant impact on disease incidence worldwide and because it is a pioneer in showing a different course of disease depending on the causal genetic change”.

  • “This work supports the treatment of patients with dilated cardiomyopathy in a different way depending on their genetics and opens up the possibility of applying personalized medicine in this area of ​​cardiology.”

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